Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R3596S
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PKHD1

NM_138694.4:p.R3596S

Associated Papers

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.

Kim J et al.

Human Genomics, 2025

41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR_wild-type_SCC
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